Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DiGeorge Syndrome: a not so rare disease.

Clinics (Sao Paulo, Brazil) - 1 Jan 2010

Fomin Angela B F, Pastorino Antonio Carlos, Kim Chong Ae, Pereira C A, Carneiro-Sampaio Magda, Abe-Jacob Cristina Miuki

Abstract excerpt

INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 22

Share to DiGeorge Syndrome

Share to Infant

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 21049214
DOI: 10.1590/s1807-59322010000900009
PMCID: PMC2954737

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DiGeorge Syndrome: a not so rare disease.PMID 21049214Read ↗

[Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome].Semantic proximity Read ↗

DiGeorge Syndrome: New InsightsSemantic proximity Read ↗

DiGeorge syndrome: an historical review of clinical and cytogenetic features.Semantic proximity Read ↗

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and ManagementSemantic proximity Read ↗

[DiGeorge syndrome, a review of 52 patients].Semantic proximity Read ↗

DiGeorge syndrome: part of CATCH 22.Semantic proximity Read ↗

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Semantic proximity Read ↗

The Diverse Clinical Features of Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome)Semantic proximity Read ↗

DiGeorge's syndrome: a gene at last.Semantic proximity Read ↗

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete AthymiaSemantic proximity Read ↗

Chromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial SyndromeSemantic proximity Read ↗

Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.